EP3966320A4 - TREATMENT AND DETECTION OF HEREDITARY NEUROPATHIES AND ASSOCIATED DISORDERS - Google Patents

TREATMENT AND DETECTION OF HEREDITARY NEUROPATHIES AND ASSOCIATED DISORDERS Download PDF

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Publication number
EP3966320A4
EP3966320A4 EP20801876.2A EP20801876A EP3966320A4 EP 3966320 A4 EP3966320 A4 EP 3966320A4 EP 20801876 A EP20801876 A EP 20801876A EP 3966320 A4 EP3966320 A4 EP 3966320A4
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EP
European Patent Office
Prior art keywords
detection
treatment
associated disorders
hereditary neuropathies
neuropathies
Prior art date
Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
Pending
Application number
EP20801876.2A
Other languages
German (de)
French (fr)
Other versions
EP3966320A1 (en
Inventor
Stephan L. ZUCHNER
Adriana REBELO
Andrea CORTESE
Rong Grace ZHAI
David N. HERRMANN
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
UCL Business Ltd
University of Miami
University of Rochester
Original Assignee
UCL Business Ltd
University of Miami
University of Rochester
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by UCL Business Ltd, University of Miami, University of Rochester filed Critical UCL Business Ltd
Publication of EP3966320A1 publication Critical patent/EP3966320A1/en
Publication of EP3966320A4 publication Critical patent/EP3966320A4/en
Pending legal-status Critical Current

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    • C12N9/00—Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
    • C12N9/0004—Oxidoreductases (1.)
    • C12N9/0006—Oxidoreductases (1.) acting on CH-OH groups as donors (1.1)
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
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    • A61K38/16—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • A61K38/43—Enzymes; Proenzymes; Derivatives thereof
    • A61K38/44—Oxidoreductases (1)
    • A61K38/443—Oxidoreductases (1) acting on CH-OH groups as donors, e.g. glucose oxidase, lactate dehydrogenase (1.1)
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
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    • A61K31/185—Acids; Anhydrides, halides or salts thereof, e.g. sulfur acids, imidic, hydrazonic or hydroximic acids
    • A61K31/19—Carboxylic acids, e.g. valproic acid
    • A61K31/195—Carboxylic acids, e.g. valproic acid having an amino group
    • A61K31/197—Carboxylic acids, e.g. valproic acid having an amino group the amino and the carboxyl groups being attached to the same acyclic carbon chain, e.g. gamma-aminobutyric acid [GABA], beta-alanine, epsilon-aminocaproic acid or pantothenic acid
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    • A61K31/41—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins having five-membered rings with two or more ring hetero atoms, at least one of which being nitrogen, e.g. tetrazole
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    • A61K31/4184—1,3-Diazoles condensed with carbocyclic rings, e.g. benzimidazoles
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    • A61K31/50—Pyridazines; Hydrogenated pyridazines
    • A61K31/502—Pyridazines; Hydrogenated pyridazines ortho- or peri-condensed with carbocyclic ring systems, e.g. cinnoline, phthalazine
    • A—HUMAN NECESSITIES
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    • A61K31/33—Heterocyclic compounds
    • A61K31/395—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins
    • A61K31/495—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins having six-membered rings with two or more nitrogen atoms as the only ring heteroatoms, e.g. piperazine or tetrazines
    • A61K31/505—Pyrimidines; Hydrogenated pyrimidines, e.g. trimethoprim
    • A61K31/517—Pyrimidines; Hydrogenated pyrimidines, e.g. trimethoprim ortho- or peri-condensed with carbocyclic ring systems, e.g. quinazoline, perimidine
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    • A61K31/70—Carbohydrates; Sugars; Derivatives thereof
    • A61K31/7088—Compounds having three or more nucleosides or nucleotides
    • A61K31/7105—Natural ribonucleic acids, i.e. containing only riboses attached to adenine, guanine, cytosine or uracil and having 3'-5' phosphodiester links
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    • A61K38/43—Enzymes; Proenzymes; Derivatives thereof
    • A61K38/46—Hydrolases (3)
    • A61K38/465—Hydrolases (3) acting on ester bonds (3.1), e.g. lipases, ribonucleases
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
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    • A61K48/005—Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy characterised by an aspect of the 'active' part of the composition delivered, i.e. the nucleic acid delivered
    • A—HUMAN NECESSITIES
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    • A61P25/28—Drugs for disorders of the nervous system for treating neurodegenerative disorders of the central nervous system, e.g. nootropic agents, cognition enhancers, drugs for treating Alzheimer's disease or other forms of dementia
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    • C12N15/113—Non-coding nucleic acids modulating the expression of genes, e.g. antisense oligonucleotides; Antisense DNA or RNA; Triplex- forming oligonucleotides; Catalytic nucleic acids, e.g. ribozymes; Nucleic acids used in co-suppression or gene silencing
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    • C12Q1/26—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving oxidoreductase
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    • C12Y—ENZYMES
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    • C12Y101/01014—L-Iditol 2-dehydrogenase (1.1.1.14), i.e. sorbitol-dehydrogenase
    • G—PHYSICS
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    • G01N33/48—Biological material, e.g. blood, urine; Haemocytometers
    • G01N33/50—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
    • G01N33/66—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving blood sugars, e.g. galactose
    • A—HUMAN NECESSITIES
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    • C12N2310/14—Type of nucleic acid interfering nucleic acids [NA]
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    • C12N2750/14111—Dependovirus, e.g. adenoassociated viruses
    • C12N2750/14141—Use of virus, viral particle or viral elements as a vector
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    • G01N2800/28—Neurological disorders
    • G01N2800/285—Demyelinating diseases; Multipel sclerosis

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  • Engineering & Computer Science (AREA)
  • Medicinal Chemistry (AREA)
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  • Bioinformatics & Cheminformatics (AREA)
  • Epidemiology (AREA)
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  • Biochemistry (AREA)
  • Immunology (AREA)
  • Microbiology (AREA)
  • Physics & Mathematics (AREA)
  • Analytical Chemistry (AREA)
  • Biophysics (AREA)
  • Neurosurgery (AREA)
  • Neurology (AREA)
  • Pathology (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • General Chemical & Material Sciences (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Plant Pathology (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Virology (AREA)
  • Hematology (AREA)
  • Urology & Nephrology (AREA)
  • Hospice & Palliative Care (AREA)
  • Psychiatry (AREA)
EP20801876.2A 2019-05-07 2020-05-06 TREATMENT AND DETECTION OF HEREDITARY NEUROPATHIES AND ASSOCIATED DISORDERS Pending EP3966320A4 (en)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201962844370P 2019-05-07 2019-05-07
US202062987151P 2020-03-09 2020-03-09
PCT/US2020/031708 WO2020227430A1 (en) 2019-05-07 2020-05-06 Treatment and detection of inherited neuropathies and associated disorders

Publications (2)

Publication Number Publication Date
EP3966320A1 EP3966320A1 (en) 2022-03-16
EP3966320A4 true EP3966320A4 (en) 2023-10-25

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EP20801876.2A Pending EP3966320A4 (en) 2019-05-07 2020-05-06 TREATMENT AND DETECTION OF HEREDITARY NEUROPATHIES AND ASSOCIATED DISORDERS

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US (3) US20220125890A1 (en)
EP (1) EP3966320A4 (en)
JP (2) JP2022531466A (en)
KR (1) KR20220025713A (en)
CN (1) CN113966396A (en)
AU (1) AU2020268368A1 (en)
BR (1) BR112021021939A2 (en)
CA (1) CA3136100A1 (en)
IL (1) IL287748A (en)
MX (3) MX2021013511A (en)
SG (1) SG11202111822QA (en)
WO (1) WO2020227430A1 (en)

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IL272246B2 (en) 2017-07-28 2026-01-01 Applied Therapeutics Inc Derivatives of 2-(4-oxo/thioketone/azo-3-((substituted)benzo[d]thiazol-2-yl)methyl)- 3,4-dihydrothieno[3,4-d]pyridazin-1-yl)acetic acid for use as aldose reductase inhibitors in treating galactosemia or preventing complications associated with galactosemia
CN113840825A (en) 2019-04-01 2021-12-24 应用治疗公司 aldose reductase inhibitor
MX2021013511A (en) 2019-05-07 2022-02-23 Univ Miami TREATMENT AND DETECTION OF INHERITED NEUROPATHIES AND ASSOCIATED DISORDERS.
KR20230110194A (en) * 2022-01-13 2023-07-21 주식회사 툴젠 A Schwann cell specific promoter
GB202400033D0 (en) 2024-01-02 2024-02-14 Nicolnson Tamara Therapy i

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